Abstract
A shadow of doubt looms behind the excitement surrounding personalized medicine. Recent studies have found that whole genome sequencing will have limited potential to improve the health of otherwise asymptomatic and healthy individuals (Roberts et al., 2012). The results of a genomic profile will give people interesting and potentially valuable information about their predispositions to disease. But these tests will remain just potentially valuable if they do not motivate change. The extra element needed in approaches to understanding the clinical utility of genomic information will be to go beyond the bedside.
Going “beyond” will mean focusing on the environmental and societal factors that lead to ill health. The exhortation to adopt a healthier lifestyle in response to genetic information is predicated on the assumption that individuals have the ability to respond in a meaningful and effective way. Micah Berman illustrates: “The fact that nearly every country is encountering a rise in obesity as its national wealth increases suggests that structural and cultural factors are far more important sources of the problem than a mass failure of individual willpower” (Berman, 2011). To reform health, we will need to move beyond the model that emphasizes medical care and individualism rather than prevention and community.
A growing field of study in the area of public health is focusing on the underlying social and environmental determinants of health. The fundamental cause of disease theory endorsed by Bruce Link and Jo Phelan offers insight into what is missing from common approaches to health improvement. The reason health gradients persist and grow despite advancements in medicine is that some people have greater access to such resources as money, knowledge, power, and social support to benefit their health (Link and Phelan, 1995; Phelan et al., 2010). There are compelling ethical arguments to address this disparity but also a strong interest in confronting these underlying causes of disease that have implications for each of us. Medical care and screening for diseases, or even predisposition to diseases, will not be enough (Farley, 2009).
Thomas Frieden, director of the Centers for Disease Control and Prevention, illustrates the importance of socioeconomic status by placing it at the base of his health impact pyramid (Frieden, 2010). Social conditions affect all layers of the pyramid, whereas education and clinical interventions exist at the top of the pyramid, offering the smallest impact on overall health. Policymakers must address these underlying social constraints that threaten agency in health and compromise patient empowerment models. The number of estimated deaths attributable to poor diet and physical inactivity continues to grow (Mokdad et al., 2004). To address these risk factors for disease and mortality, however, public health research proves we need to move beyond the clinic and into the environment.
This will be even more important given the trend in modern medicine to give the individual more power over medical decisions. Personalized medicine will further transform individuals into co-practitioners in the management of their health: “Having access to their personal genomic information can enhance individuals' sense of choice and control, leading them to take greater ownership in learning and acting on the health implications of those data and in protecting the privacy of their genetic results” (Foster et al., 2009). Such statements, however, prompt the question of the equivalency of knowledge and power. It may be irresponsible to shift more of the onus of responsibility onto the individual if many are unable to improve their health because the fundamental social determinants of health go unaddressed or are insufficiently addressed.
According to Berman, “maximizing responsibility is possible only when the environment supports it” (Berman, 2011). Advocacy groups are paving the way to provide individuals with resources to enhance their knowledge of and participation in their own health. Educational measures in themselves, however, will be insufficient if individuals cannot successfully act on what they know. The job of policymakers is to look at those factors beyond the bedside that contribute greatly to population health. Medical care focuses on treating already sick people. Preventive medicine should focus on healthy individuals to prevent them from becoming ill. Whole genome sequencing and the promise of personalized medicine require both approaches to truly empower individuals to have control of their health.